Transient Receptor Potential Cation Channel, Subfamily M, Member 1

Alternative Names

  • TRPM1
  • Melastatin 1
  • MLSN1
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OMIM Number

603576

NCBI Gene ID

4308

Uniprot ID

Q7Z4N2

Length

160,213 bases

No. of Exons

29

No. of isoforms

7

Protein Name

Transient Receptor Potential Cation Channel Subfamily M Member 1

Molecular Mass

182178 Da

Amino Acid Count

1603

Genomic Location

chr15:31,001,060-31,161,272

Gene Map Locus
15q13.3

Description

The TRPM1 gene codes for a member of the transient receptor potential (TRP) channel family that is important in cellular and somatosensory perception.  The encoded protein is expressed in the bipolar cells and the melanocytes.  The TRPM1 protein acts as a channel that transports cations in and out of bipolar cells.  TRPM1 channels are involved in the pathway that is used to see in low light.  When the TRPM1 channel is open, it allows cations to flow in and out of bipolar cells, which prevent visual signals from being sent in the bright-light conditions.  While in the low-light conditions, the TRPM1 channels are triggered by the visual signals from rod cells to close, which causes visual signals to be transmitted.  The channel may also play a role in Ca2+-dependent signaling related to melanocyte proliferation, differentiation, and/or survival. 

Defects in this protein are the cause of congenital stationary night blindness type 1C (CSNB1), an autosomal recessive non-progressive retinal disorder, characterized by impaired night vision, nystagmus and myopia.  Mutations in TRPM1 have been reported to account for at least half of the autosomal recessive CSNB1 cases in the Caucasian and Japanese population.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001252020.1:c.1577T>ASaudi Arabiachr15:31049421Uncertain SignificanceNight Blindness, Congenital Stationary, Type 1CNG_016453.2:g.116853T>A; NM_001252020.1:c.1577T>A; NP_001238949.1:p.Met526Lys1342111186
NM_001252020.1:c.2394delSaudi Arabiachr15:31038140Likely PathogenicNight Blindness, Congenital Stationary, Type 1CNG_016453.2:g.128134del; NM_001252020.1:c.2394del; NP_001238949.1:p.Thr799ProfsTer110
NM_002420.6:c.245_250delinsGTGAAAGATUnited Arab EmiratesNC_000015.10:g.31068056_31068061delinsATCTTTCACLikely PathogenicNight Blindness, Congenital Stationary, Type 1CNG_016453.2:g.98213_98218delinsGTGAAAGAT; NM_002420.6:c.245_250delinsGTGAAAGAT; NP_002411.3:p.Asp82_Ser83delinsGlyGluArg
NM_002420.6:c.2782C>TUnited Arab EmiratesNC_000015.10:g.31032793G>APathogenic, Uncertain SignificanceLikely PathogenicNight Blindness, Congenital Stationary, Type 1CNG_016453.2:g.133481C>T; NM_002420.6:c.2782C>T; NP_002411.3:p.Arg928Trp727504182167749
NM_002420.6:c.2999G>AUnited Arab EmiratesNC_000015.10:g.31031045C>TUncertain SignificanceLikely PathogenicNight Blindness, Congenital Stationary, Type 1CNG_016453.2:g.135229G>A; NM_002420.6:c.2999G>A; NP_002411.3:p.Arg1000Gln374787557950187
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